Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1217
Variant:p.R508H
Back to variants list

KIAA1217

NM_019590.5:p.R508H

Associated Papers

Mutation profiling in eight cases of vagal paragangliomas.

Kudryavtseva AV et al.

Bmc Medical Genomics, 2020

32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat1

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S16
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."